Variant report

Variant	rs16982743
Chromosome Location	chr19:52004903-52004904
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr19:52004747-52004973	K562	blood:	n/a	n/a
2	SPI1	chr19:52004832-52005336	HL-60	blood:	n/a	chr19:52005282-52005295 chr19:52005049-52005058 chr19:52005268-52005281
3	MAFK	chr19:52004892-52005011	HepG2	liver:	n/a	n/a
4	MAFK	chr19:52004788-52005014	HepG2	liver:	n/a	n/a
5	MAFF	chr19:52004842-52005079	K562	blood:	n/a	n/a
6	SPI1	chr19:52004889-52005205	GM12891	blood:	n/a	chr19:52005049-52005058

Variant related genes	Relation type
SIGLEC12	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13343377	0.94[ASW][hapmap];0.82[CEU][hapmap]
rs1551556	0.83[ASW][hapmap]
rs16982740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16982761	0.81[EUR][1000 genomes]
rs17305017	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2009362	0.83[ASW][hapmap]
rs2168641	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs2864097	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs3810110	0.83[ASW][hapmap]
rs3829658	0.81[MEX][hapmap];0.80[YRI][hapmap]
rs56815351	0.93[ASN][1000 genomes]
rs58356296	0.85[ASN][1000 genomes]
rs58676877	0.81[EUR][1000 genomes]
rs58758423	0.93[ASN][1000 genomes]
rs59302710	0.93[ASN][1000 genomes]
rs59372820	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60467951	0.81[ASN][1000 genomes]
rs60618267	0.81[ASN][1000 genomes]
rs7245807	1.00[JPT][hapmap]
rs7246846	0.82[CEU][hapmap]
rs7247380	0.93[ASN][1000 genomes]
rs7247464	0.81[EUR][1000 genomes]
rs7247468	0.81[EUR][1000 genomes]
rs73051351	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73560996	0.85[ASN][1000 genomes]
rs8100001	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8102707	0.83[ASW][hapmap]
rs8110247	0.82[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
5	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	esv33175	chr19:52002098-52010839	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs16982743	SUV420H2	cis	cerebellum	SCAN
rs16982743	ZNF446	cis	cerebellum	SCAN
rs16982743	CHMP2A	cis	parietal	SCAN
rs16982743	MZF1	cis	cerebellum	SCAN
rs16982743	LENG8	cis	parietal	SCAN
rs16982743	SIGLEC12	cis	Whole Blood	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52002600-52015000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:52004200-52005000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr19:52004200-52007000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr19:52004200-52007400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:52004400-52005600	Enhancers	Primary B cells from peripheral blood	blood
6	chr19:52004400-52005600	Enhancers	Primary hematopoietic stem cells	blood
7	chr19:52004400-52006000	Enhancers	K562	blood
8	chr19:52004600-52005000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr19:52004600-52005000	Enhancers	Colonic Mucosa	Colon
10	chr19:52004600-52005000	Active TSS	Duodenum Mucosa	Duodenum
11	chr19:52004600-52005000	Enhancers	Fetal Thymus	thymus
12	chr19:52004600-52005000	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr19:52004600-52005200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr19:52004600-52005200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr19:52004600-52005200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr19:52004600-52005200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr19:52004600-52005200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr19:52004600-52005400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr19:52004600-52005800	Enhancers	Primary B cells from cord blood	blood
20	chr19:52004600-52005800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:52004600-52005800	Enhancers	Placenta	Placenta
22	chr19:52004600-52006000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr19:52004600-52006000	Enhancers	Spleen	Spleen
24	chr19:52004800-52005000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:52004800-52005000	Bivalent Enhancer	Primary T cells from cord blood	blood
26	chr19:52004800-52005000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
27	chr19:52004800-52005000	Enhancers	Dnd41	blood
28	chr19:52004800-52005200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:52004800-52005200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:52004800-52005200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:52004800-52005200	Enhancers	GM12878-XiMat	blood

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